Malignant peripheral nerve sheath tumor in a child

Noreña-Rengifo, Brian D; Cadavid-Alvarez, Lina Marcela; Gil-Serrano, Patricia Eugenia; Varela-Aguirre, Gabriel Jaime

doi:10.1016/j.radcr.2020.10.028

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…Currently, the mainstay of treatment for EMPNSTs involves radical surgical resection combined with postoperative chemoradiotherapy and neoadjuvant therapy ( 26 ). From the 13 clinical data points, it is difficult to judge the prognosis of surgical treatment, but radical resection is more likely to be effective in inhibiting distant metastasis and improving the prognosis ( Table 1 ) ( 10 – 13 , 15 , 23 , 27 ). While EZH2 inhibitors have been reported to control the progression of EMPNSTs, recurrence remains ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

Jiang

Duan

et al. 2023

Front. Neurol.

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Malignant peripheral nerve sheath tumors (MPNSTs) are commonly associated with poor prognosis and are primarily caused by germline mutations in the SMARCB1/INI-1 gene. However, these tumors are rarely found in the spine. This case report presents the case of a 3-year-old boy diagnosed with a lumbosacral dumbbell-shaped epithelioid MPNST, an extremely uncommon manifestation. Immunohistochemistry revealed the complete absence of the SMARCB1/INI-1 protein, and genetic testing identified a novel germline mutation in the SMARCB1/INI-1 gene in both the patient and his father, suggesting a “second-hit loss.” One year of follow-up after the tumor's radical resection revealed no suspected metastasis. This case report offers novel genetic research results regarding spinal dumbbell-shaped MPNSTs. Six studies, including 13 cases associated with spinal dumbbell MPNST, were included in the literature. The range of age of these patients varied from 2 to 71 years. Of the 12 known patients diagnosed with spinal dumbbell MPNST, only one received radiation therapy, while the rest underwent surgery. Two patients who underwent partial resection had metastases after surgery, while one of the five patients who underwent complete surgical resection alone had no distant metastases and a good prognosis, indicating that radical resection is more likely to be effective in inhibiting distant metastasis and improving the prognosis.

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Section: Discussionmentioning

confidence: 99%

A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

Jiang

Duan

et al. 2023

Front. Neurol.

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“…MPNST, also known as neurofibrosarcomas and malignant schwannomas, are a rare type of soft tissue sarcoma, thought to be of neural crest origin, typically associated with NF1 (50% of cases are associated with NF1, and 50% are sporadic) [6] rather than NF2 [7]. Only 5% of those with NF1 develop MPNST, making it a rare diagnosis [8] even in those with NF1. It is not known to be associated with NF2 (i.e.…”

Section: Discussionmentioning

confidence: 99%

Malignant Transformation of a Peripheral Nerve Sheath Tumour in Neurofibromatosis Type 2

Ali¹,

Parry²,

Halliday³

et al. 2022

Neurosurg Cases Rev

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Objectives: To report a rare case of malignant transformation of a peripheral nerve sheath tumour (MPNST) with associated metastasis in a patient with Neurofibromatosis 2 (NF2).NF2 is a hereditary disorder which presents with both central and peripheral nervous system tumours; caused by defects in the long arm of chromosome 22. The prevalence of NF2 is 1 in 50,000. NF2 is not a recognised risk factor for malignant transformation of schwannomas and this in this group is rarely seen, despite their high burden of schwannomas.Case: A 30-year-old patient with known NF2 presented to John Radcliffe Hospital with right sided hip pain, anterior thigh pain and weakness in his legs that developed over 7 months, affecting his mobility. Multiple investigations including MRI scans and ultrasound guided biopsy revealed a malignant peripheral nerve sheath tumour with metastatic spread, arising from a longstanding L4 lesion, previously diagnosed radiologically as a schwannoma. Conclusion:The case highlighted demonstrates a rare incidence of malignant transformation of a spinal schwannoma and outlines diagnostic and management approaches.

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Malignant Peripheral Nerve Sheath Tumor, a Heterogeneous, Aggressive Cancer with Diverse Biomarkers and No Targeted Standard of Care: Review of the Literature and Ongoing Investigational Agents

Somaiah,

Paudyal,

Winkler

et al. 2024

Targ Oncol

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Malignant peripheral nerve sheath tumor in a child

Cited by 3 publications

References 16 publications

A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

Malignant Transformation of a Peripheral Nerve Sheath Tumour in Neurofibromatosis Type 2

Malignant Peripheral Nerve Sheath Tumor, a Heterogeneous, Aggressive Cancer with Diverse Biomarkers and No Targeted Standard of Care: Review of the Literature and Ongoing Investigational Agents

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